NUTF2
gene geneOn this page
Also known as NTF2PP15
Summary
NUTF2 (nuclear transport factor 2, HGNC:13722) is a protein-coding gene on chromosome 16q22.1, encoding Nuclear transport factor 2 (P61970). Mediates the import of GDP-bound RAN from the cytoplasm into the nucleus which is essential for the function of RAN in cargo receptor-mediated nucleocytoplasmic transport. It is a common-essential gene (DepMap: required in 99.3% of cancer cell lines).
This gene encodes a cytosolic factor that facilitates protein transport into the nucleus. The encoded protein is required for nuclear import of the small Ras-like GTPase, Ran which is involved in numerous cellular processes. This protein also interacts with the nuclear pore complex glycoprotein p62.
Source: NCBI Gene 10204 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 10 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.3% of screened cell lines (common-essential)
- MANE Select transcript:
NM_005796
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13722 |
| Approved symbol | NUTF2 |
| Name | nuclear transport factor 2 |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NTF2, PP15 |
| Ensembl gene | ENSG00000102898 |
| Ensembl biotype | protein_coding |
| OMIM | 605813 |
| Entrez | 10204 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 25 protein_coding, 1 retained_intron
ENST00000219169, ENST00000567105, ENST00000568233, ENST00000568390, ENST00000568396, ENST00000569436, ENST00000570026, ENST00000587481, ENST00000700610, ENST00000700611, ENST00000700612, ENST00000700613, ENST00000700614, ENST00000700615, ENST00000899783, ENST00000899784, ENST00000899785, ENST00000899786, ENST00000899787, ENST00000939627, ENST00000939628, ENST00000939629, ENST00000939630, ENST00000939631, ENST00000939632, ENST00000969121
RefSeq mRNA: 5 — MANE Select: NM_005796
NM_001322038, NM_001322039, NM_001322040, NM_001322041, NM_005796
CCDS: CCDS10848
Canonical transcript exons
ENST00000219169 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001047772 | 67846933 | 67846985 |
| ENSE00003601795 | 67868340 | 67868411 |
| ENSE00003651473 | 67865102 | 67865229 |
| ENSE00003980331 | 67870800 | 67872567 |
| ENSE00003980332 | 67868501 | 67868599 |
Expression profiles
Bgee: expression breadth ubiquitous, 233 present calls, max score 97.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 190.4099 / max 809.1524, expressed in 1828 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154683 | 166.1076 | 1825 |
| 154684 | 12.8740 | 1780 |
| 154682 | 9.4450 | 1792 |
| 154685 | 1.4328 | 915 |
| 154681 | 0.5505 | 323 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ascending aorta | UBERON:0001496 | 97.25 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.25 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.24 | gold quality |
| popliteal artery | UBERON:0002250 | 97.18 | gold quality |
| tibial artery | UBERON:0007610 | 97.18 | gold quality |
| aorta | UBERON:0000947 | 97.12 | gold quality |
| left coronary artery | UBERON:0001626 | 97.01 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.99 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.96 | gold quality |
| artery | UBERON:0001637 | 96.95 | gold quality |
| right coronary artery | UBERON:0001625 | 96.93 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.78 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.76 | gold quality |
| embryo | UBERON:0000922 | 96.70 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.70 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.57 | gold quality |
| lower esophagus | UBERON:0013473 | 96.56 | gold quality |
| hypothalamus | UBERON:0001898 | 96.49 | gold quality |
| amygdala | UBERON:0001876 | 96.48 | gold quality |
| coronary artery | UBERON:0001621 | 96.44 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.44 | gold quality |
| ventricular zone | UBERON:0003053 | 96.39 | gold quality |
| monocyte | CL:0000576 | 96.26 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 96.26 | gold quality |
| leukocyte | CL:0000738 | 96.21 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.21 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.20 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.19 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.19 | gold quality |
| body of uterus | UBERON:0009853 | 96.19 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7303 | no | 826.32 |
| E-MTAB-8060 | no | 143.55 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC
miRNA regulators (miRDB)
56 targeting NUTF2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-4802-3P | 99.72 | 70.13 | 1273 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-1287-3P | 99.63 | 66.93 | 492 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-891B | 99.59 | 69.81 | 1083 |
| HSA-MIR-2113 | 99.58 | 71.22 | 1521 |
| HSA-MIR-18A-3P | 99.56 | 65.68 | 1092 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-548G-3P | 99.48 | 68.67 | 2159 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.3% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 9)
- A nuclear pore binding site was studied on a mutated NTF2 protein. (PMID:15522285)
- Results report that NTF2 and Ran control nuclear import of the filamentous actin capping protein CapG. (PMID:18266911)
- NTF2 is a potential mediator of retinal vasculature integrity. (PMID:19404486)
- Data suggest actin accumulation in senescent cells is due to the failure of RanGTP restoration with ATP deficiency and NTF2 accumulation, resulting in decreased actin export via Exp6 inactivation. (PMID:21195711)
- Nucleocytoplasmic translocation of NTF2 is regulated in mammalian cells. (PMID:22880006)
- Binding of Ran to NTF2 is required for NTF2 to inhibit nuclear expansion and import of large cargo molecules. (PMID:26823604)
- These results showed that BLM enters the nucleus via the importin beta1, RanGDP and NTF2 dependent pathway, demonstrating for the first time the nuclear trafficking mechanism of a DNA helicase. (PMID:29017749)
- DNA-Origami NanoTrap for Studying the Selective Barriers Formed by Phenylalanine-Glycine-Rich Nucleoporins. (PMID:34324340)
- Nuclear Transport Factor 2 (NTF2) suppresses WM983B metastatic melanoma by modifying cell migration, metastasis, and gene expression. (PMID:34880267)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nutf2 | ENSDARG00000056531 |
| mus_musculus | Nutf2 | ENSMUSG00000008450 |
| mus_musculus | Nutf2-ps1 | ENSMUSG00000071497 |
| rattus_norvegicus | Nutf2l1 | ENSRNOG00000018945 |
| rattus_norvegicus | AABR07018058.1 | ENSRNOG00000057750 |
| drosophila_melanogaster | Ntf-2 | FBGN0031145 |
| drosophila_melanogaster | Ntf-2r | FBGN0032680 |
| caenorhabditis_elegans | ran-4 | WBGENE00004305 |
Paralogs (2): NXT2 (ENSG00000101888), NXT1 (ENSG00000132661)
Protein
Protein identifiers
Nuclear transport factor 2 — P61970 (reviewed: P61970)
Alternative names: Placental protein 15
All UniProt accessions (7): P61970, A0A8V8TPY3, A0A8V8TR25, A0A8V8TR28, A0A8V8TRD3, B4DEQ2, H3BRV9
UniProt curated annotations — full annotation on UniProt →
Function. Mediates the import of GDP-bound RAN from the cytoplasm into the nucleus which is essential for the function of RAN in cargo receptor-mediated nucleocytoplasmic transport. Thereby, plays indirectly a more general role in cargo receptor-mediated nucleocytoplasmic transport. Interacts with GDP-bound RAN in the cytosol, recruits it to the nuclear pore complex via its interaction with nucleoporins and promotes its nuclear import.
Subunit / interactions. Homodimer. Interacts with RAN (GDP-bound form); the interaction is direct and regulates RAN nuclear import. Interacts with the nucleoporins NUP54, NUP58 and NUP62 (via FG repeats); recruits NUTF2 to the nuclear pore complex a step required for NUTF2-mediated GDP-bound RAN nuclear import. Interacts with CAPG; mediates its nuclear import.
Subcellular location. Cytoplasm. Cytosol. Nucleus outer membrane. Nucleus. Nuclear pore complex. Nucleus inner membrane. Nucleoplasm.
RefSeq proteins (5): NP_001308967, NP_001308968, NP_001308969, NP_001308970, NP_005787* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002075 | NTF2_dom | Domain |
| IPR018222 | Nuclear_transport_factor_2_euk | Domain |
| IPR032710 | NTF2-like_dom_sf | Homologous_superfamily |
| IPR045875 | NTF2 | Family |
Pfam: PF02136
UniProt features (14 total): strand 6, helix 3, mutagenesis site 2, chain 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1GY5 | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P61970-F1 | 95.29 | 0.93 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 4
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 42 | no effect on localization to the nucleoplasm. |
| 124 | no effect on localization to the nucleoplasm. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 209 (showing top):
MYAATNNNNNNNGGC_UNKNOWN, E2F_Q4_01, chr16q22, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, KAAB_FAILED_HEART_ATRIUM_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, RACCACAR_AML_Q6, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_GTPASE_BINDING, GGAMTNNNNNTCCY_UNKNOWN, CAGCTG_AP4_Q5, PUJANA_CHEK2_PCC_NETWORK, GOBP_NUCLEAR_TRANSPORT, AAACCAC_MIR140
GO Biological Process (6): protein import into nucleus (GO:0006606), protein export from nucleus (GO:0006611), mRNA transport (GO:0051028), protein localization to nuclear pore (GO:0090204), nucleocytoplasmic transport (GO:0006913), protein transport (GO:0015031)
GO Molecular Function (5): structural constituent of nuclear pore (GO:0017056), small GTPase binding (GO:0031267), identical protein binding (GO:0042802), nuclear import signal receptor activity (GO:0061608), protein binding (GO:0005515)
GO Cellular Component (11): nuclear inner membrane (GO:0005637), nuclear outer membrane (GO:0005640), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear membrane (GO:0031965), nuclear pore central transport channel (GO:0044613), extracellular exosome (GO:0070062), nucleus (GO:0005634), nuclear pore (GO:0005643), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| intracellular protein transport | 2 |
| import into nucleus | 2 |
| nuclear pore | 2 |
| nuclear membrane | 2 |
| nuclear envelope | 2 |
| nuclear protein-containing complex | 2 |
| protein localization to nucleus | 1 |
| establishment of protein localization to organelle | 1 |
| nuclear export | 1 |
| RNA transport | 1 |
| protein localization to nuclear envelope | 1 |
| nuclear transport | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| structural molecule activity | 1 |
| nucleocytoplasmic transport | 1 |
| GTPase binding | 1 |
| protein binding | 1 |
| nucleocytoplasmic carrier activity | 1 |
| binding | 1 |
| organelle inner membrane | 1 |
| organelle outer membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nucleus | 1 |
| organelle membrane | 1 |
| extracellular vesicle | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
168 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RAN | NUTF2 | psi-mi:“MI:0915”(physical association) | 0.890 |
| NUTF2 | RAN | psi-mi:“MI:0407”(direct interaction) | 0.890 |
| RAN | NUP153 | psi-mi:“MI:0914”(association) | 0.790 |
| NUP62 | NUTF2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| NUTF2 | NUP62 | psi-mi:“MI:0915”(physical association) | 0.780 |
| NUTF2 | NUTF2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NUTF2 | NUTF2 | psi-mi:“MI:0407”(direct interaction) | 0.670 |
| CDKN1B | KPNA3 | psi-mi:“MI:0915”(physical association) | 0.580 |
| NUTF2 | SPATC1L | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUTF2 | BRWD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUTF2 | YAF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUTF2 | THAP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUTF2 | TLE5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUTF2 | LENG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUTF2 | CHCHD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUTF2 | KHDC4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUTF2 | TEX35 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUTF2 | ZMAT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUTF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (152): NUTF2 (Two-hybrid), NUTF2 (Two-hybrid), NUP62 (Two-hybrid), NUTF2 (Affinity Capture-RNA), NUTF2 (Affinity Capture-RNA), NUTF2 (Affinity Capture-RNA), NUP62 (Reconstituted Complex), AP2A1 (Co-fractionation), AP2A2 (Co-fractionation), APOA1BP (Co-fractionation), CTH (Co-fractionation), GPX4 (Co-fractionation), HINT1 (Co-fractionation), NUTF2 (Co-fractionation), NUTF2 (Co-fractionation)
ESM2 similar proteins: A6QNX3, B2GV77, P09851, P20936, P50904, P61970, P61971, P61972, Q1JP79, Q29425, Q2KI42, Q2KIW0, Q2TBL9, Q32KP9, Q3UNA4, Q4R4K5, Q4R5H6, Q5E9J4, Q5F415, Q5FVJ7, Q5R8G4, Q5R8I6, Q5RB36, Q5RES2, Q5RKN4, Q5ZLH0, Q6PC62, Q8BG32, Q8BUH1, Q8IUI8, Q8K0F1, Q8MJJ1, Q92747, Q93034, Q99PD4, Q9CQC8, Q9CZQ9, Q9D5V5, Q9DAI2, Q9ES56
Diamond homologs: O42242, P33331, P61970, P61971, P61972, P87102, Q10100, Q21735, Q32KP9, Q5R8G4, Q6BWC0, Q6CC82, Q6CQX4, Q6FRC6, Q75AA5, Q8NJ52, Q96VN3, Q9C7F5, Q9FZK4, Q9P926, Q9XJ54, Q86HW7, P0CAN8, Q9FME2, Q5ZLH0, P97855, Q13283, Q32LC7, Q5RB87, Q9V3H8, O94260, Q9U757, B2GV77, Q3UNA4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NUTF2 | “up-regulates activity” | NUP62 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 63 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| NEP/NS2 Interacts with the Cellular Export Machinery | 5 | 44.4× | 1e-05 |
| Nuclear import of Rev protein | 5 | 43.1× | 1e-05 |
| Rev-mediated nuclear export of HIV RNA | 5 | 40.7× | 1e-05 |
| NS1 Mediated Effects on Host Pathways | 5 | 36.6× | 2e-05 |
| SUMOylation of DNA replication proteins | 5 | 31.8× | 2e-05 |
| tRNA processing in the nucleus | 5 | 25.2× | 7e-05 |
| ISG15 antiviral mechanism | 5 | 19.3× | 1e-04 |
| HCMV Late Events | 5 | 12.6× | 5e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein import into nucleus | 6 | 17.3× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
10 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
688 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:67865230:G:GG | donor_gain | 1.0000 |
| 16:67868334:TTTCA:T | acceptor_loss | 1.0000 |
| 16:67868335:TTCAG:T | acceptor_loss | 1.0000 |
| 16:67868336:TCAG:T | acceptor_loss | 1.0000 |
| 16:67868337:CAGAT:C | acceptor_loss | 1.0000 |
| 16:67868338:AGAT:A | acceptor_loss | 1.0000 |
| 16:67868339:G:A | acceptor_loss | 1.0000 |
| 16:67868408:GTCT:G | donor_gain | 1.0000 |
| 16:67868412:G:GG | donor_gain | 1.0000 |
| 16:67868416:G:GG | donor_gain | 1.0000 |
| 16:67868500:GA:G | acceptor_gain | 1.0000 |
| 16:67868500:GAGCC:G | acceptor_gain | 1.0000 |
| 16:67868598:AG:A | donor_loss | 1.0000 |
| 16:67868599:GGTAA:G | donor_loss | 1.0000 |
| 16:67868600:G:T | donor_loss | 1.0000 |
| 16:67870797:TA:T | acceptor_loss | 1.0000 |
| 16:67870798:A:AG | acceptor_gain | 1.0000 |
| 16:67870798:A:C | acceptor_loss | 1.0000 |
| 16:67870798:AGGC:A | acceptor_gain | 1.0000 |
| 16:67870799:G:GG | acceptor_gain | 1.0000 |
| 16:67870799:GGC:G | acceptor_gain | 1.0000 |
| 16:67870799:GGCG:G | acceptor_gain | 1.0000 |
| 16:67865191:T:G | donor_gain | 0.9900 |
| 16:67868338:A:AG | acceptor_gain | 0.9900 |
| 16:67868339:G:GG | acceptor_gain | 0.9900 |
| 16:67868339:GATT:G | acceptor_gain | 0.9900 |
| 16:67868407:TGTCT:T | donor_gain | 0.9900 |
| 16:67868408:GTCTG:G | donor_gain | 0.9900 |
| 16:67868409:TCT:T | donor_gain | 0.9900 |
| 16:67868409:TCTGT:T | donor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000000842 (16:67853556 T>C), RS1000082581 (16:67845853 C>T), RS1000108866 (16:67856514 G>A,T), RS1000112117 (16:67860436 G>A,T), RS1000150548 (16:67863379 AGCTG>A), RS1000176513 (16:67870929 G>T), RS1000306697 (16:67870717 AT>A,ATT), RS1000362521 (16:67856957 G>A), RS1000413714 (16:67866969 A>C,G,T), RS1000482398 (16:67861592 T>C), RS1000547586 (16:67860170 G>A), RS1000748422 (16:67861967 G>C), RS1000832563 (16:67848251 C>T), RS1001193571 (16:67856490 C>A), RS1001232055 (16:67872067 G>T)
Disease associations
OMIM: gene MIM:605813 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_84 | Schizophrenia | 2.000000e-08 |
| GCST006803_42 | Schizophrenia | 4.000000e-08 |
| GCST010002_113 | Refractive error | 2.000000e-14 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067085 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.66 | Kd | 2.171 | nM | CHEMBL3752910 |
| 8.66 | ED50 | 2.171 | nM | CHEMBL3752910 |
| 6.38 | Kd | 419.2 | nM | CHEMBL5653589 |
| 6.38 | ED50 | 419.2 | nM | CHEMBL5653589 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148908: Binding affinity to human NUTF2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0022 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148908: Binding affinity to human NUTF2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.4192 | uM |
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 3 |
| Valproic Acid | affects cotreatment, decreases expression, increases expression | 3 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, decreases expression, affects cotreatment | 2 |
| Tretinoin | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| nobiletin | decreases expression, decreases reaction | 1 |
| sodium arsenate | decreases expression, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| ochratoxin A | increases expression | 1 |
| tamibarotene | affects expression | 1 |
| microcystin RR | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Theophylline | increases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Vitamin E | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651950 | Binding | Binding affinity to human NUTF2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.